DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: AUTISM, SUSCEPTIBILITY TO, 14A ×

Gene: SH2B1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	25970
Gene Symbol:	SH2B1

SH2B1

SH2B adaptor protein 1

0.566

0.731

0.97

CUI:	C3552491
Disease:	AUTISM, SUSCEPTIBILITY TO, 14A

AUTISM, SUSCEPTIBILITY TO, 14A

phenotype

0.300

None

0